Canonical Allele Identifier: CA2576539
Gene: SEC22A HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.123225290T>G
GRCh37 chr3:g.122944137T>G
Revel Score:
ENST00000492595 (MANE Select) 0.107
ENST00000473494 0.107
ENST00000487572 0.107
ENST00000309934 0.107
gnomAD v2:
3:122944137 T / G
gnomAD v3:
3:123225290 T / G
gnomAD v4:
chr3-123225290-T-G
Joint Max Group AF 0.00016759 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00017435 (NFE)
ClinVar Allele:
2341901
ClinVar RCV:
RCV004184849
ClinVar Variation:
2348200
dbSNP:
567606115
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123225290T>G , CM000665.2:g.123225290T>G GRCh38
NC_000003.11:g.122944137T>G , CM000665.1:g.122944137T>G GRCh37
NC_000003.10:g.124426827T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000492595.6:c.534T>G MANE Select ENSP00000417972.1:p.Ile178Met
ENST00000309934.4:c.534T>G ENSP00000310521.4:p.Ile178Met
ENST00000466950.5:c.*233T>G ENSP00000417200.1:n.*233T>G
ENST00000473494.6:c.534T>G ENSP00000420343.2:p.Ile178Met
ENST00000477063.5:n.613T>G
ENST00000481965.6:c.182+15891T>G ENSP00000420128.2:n.182+15891T>G
ENST00000487572.5:c.534T>G ENSP00000420015.1:p.Ile178Met
ENST00000492595.5:c.534T>G ENSP00000417972.1:p.Ile178Met
NM_012430.4:c.534T>G NP_036562.2:p.Ile178Met
XM_011512673.1:c.534T>G XP_011510975.1:p.Ile178Met
XM_011512674.1:c.534T>G XP_011510976.1:p.Ile178Met
XM_011512675.1:c.534T>G XP_011510977.1:p.Ile178Met
XM_011512676.1:c.534T>G XP_011510978.1:p.Ile178Met
XM_011512673.3:c.534T>G XP_011510975.1:p.Ile178Met
XM_011512675.3:c.534T>G XP_011510977.1:p.Ile178Met
XM_011512676.3:c.534T>G XP_011510978.1:p.Ile178Met
NM_012430.5:c.534T>G MANE Select NP_036562.2:p.Ile178Met
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